CEP89 centrosomal protein 89 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CEP89provided by HGNC
Official Full Name: centrosomal protein 89provided by HGNC
Primary source: HGNC:HGNC:25907
See related: Ensembl:ENSG00000121289 MIM:615470; AllianceGenome:HGNC:25907
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CEP123; CCDC123
Summary: Involved in non-motile cilium assembly. Acts upstream of or within cilium assembly. Located in several cellular components, including cytosol; microtubule cytoskeleton; and non-motile cilium. Part of ciliary transition fiber. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Ubiquitous expression in ovary (RPKM 2.9), endometrium (RPKM 2.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19q13.11

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (32875925..32971958, complement)
110	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (35394651..35490633, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (33366831..33462864, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

CEP89 proteins play an important role in mitochondrial metabolism, especially complex IV activity, and are required for neuronal and cognitive function across evolution.
Title: CEP89 is required for mitochondrial metabolism and neuronal function in man and fly.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic loci influencing kidney function and chronic kidney disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54009 (e-PCR)
- UniSTS:109313

G54010 (e-PCR)
- UniSTS:109314

RH93152 (e-PCR)
- UniSTS:89643

PMC156606P3 (e-PCR)
- UniSTS:271410

D19S868 (e-PCR)
- UniSTS:64324

SHGC-7102 (e-PCR)
- UniSTS:14472

G60527 (e-PCR)
- UniSTS:137633

Homology

Homologs of the CEP89 gene: The CEP89 gene is conserved in chimpanzee, Rhesus monkey, dog, cow, mouse, rat, chicken, zebrafish, and frog.
Orthologs from Annotation Pipeline: 464 organisms have orthologs with human gene CEP89
Orthologs

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in cilium assembly	IBA Inferred from Biological aspect of Ancestor more info	PubMed
acts_upstream_of_or_within cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in mitochondrion organization	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in non-motile cilium assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
is_active_in centriole	IBA Inferred from Biological aspect of Ancestor more info	PubMed
located_in centriole	IDA Inferred from Direct Assay more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info	PubMed
part_of ciliary transition fiber	IBA Inferred from Biological aspect of Ancestor more info	PubMed
part_of ciliary transition fiber	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in mitochondrial intermembrane space	IEA Inferred from Electronic Annotation more info
located_in motile cilium	IEA Inferred from Electronic Annotation more info
located_in non-motile cilium	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in spindle pole	IDA Inferred from Direct Assay more info	PubMed
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: centrosomal protein of 89 kDa

Names: centrosomal protein 123; centrosomal protein 89kDa; coiled-coil domain containing 123; coiled-coil domain-containing protein 123, mitochondrial

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_032816.5 → NP_116205.3 centrosomal protein of 89 kDa

See identical proteins and their annotated locations for NP_116205.3

Status: VALIDATED

Source sequence(s)

AC008805, BC136328, BU196203, BU628988, DA040903, DB539713

Consensus CDS

CCDS32987.1

UniProtKB/Swiss-Prot

Q8N5J8, Q96ST8

Related

ENSP00000306105.4, ENST00000305768.10

Conserved Domains (1) summary

TIGR04211
Location:233 → 346

SH3_and_anchor; SH3 domain protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

32875925..32971958 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_005259344.4 → XP_005259401.1 centrosomal protein of 89 kDa isoform X1

Conserved Domains (1) summary

COG1196
Location:238 → 695

Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
XM_047439562.1 → XP_047295518.1 centrosomal protein of 89 kDa isoform X3
XM_017027398.2 → XP_016882887.1 centrosomal protein of 89 kDa isoform X2
XM_047439563.1 → XP_047295519.1 centrosomal protein of 89 kDa isoform X4

Related

ENSP00000465141.1, ENST00000586984.6